Julia E Visch, MD

CONTACT

Lead Sponsor

Amsterdam UMC, location VUmc

Age

18 - 70 years

Sex

ALL

Healthy Volunteers

No

•One of below:
•MYBPC3 mutation carrier
•MYH7 mutation carrier
•Genotype-negative first degree relative of a MYBPC3 or MYH7 mutation carrier
•All of the following criteria:
•For the mutation carrier group: ≥18 years old
•For the genotype-negative group: ≥30 years old
•MYBPC3 and MYH7 mutation carriers will be designated to one of three groups based on their maximum wall thickness, measured by echocardiography and MRI:
•No phenotype: MWT \<12mm
•Mild Phenotype: MWT ≥12 until \<15mm
•HCM phenotype: MWT ≥15mm

•≥70 years old
•Insulin-dependent diabetes mellitus
•Pregnancy
•Smoking
•Claustrophobia
•Pacemaker/ICD
•Renal insufficiency \<30 GFR
•Hypertension (systolic \>140mmHg or diastolic \>90mmHg)
•For the genotype negative group, no phenotype group, and mild phenotype group: the use of blood pressure medication (diuretics, beta-blockers, ACE-inhibitors, angiotensin II receptor blockers, calcium channel blockers, alpha blockers)
•For the HCM phenotype group: when it is unsafe to withhold from blood pressure medication (as specified above) for two days, as assessed by their own cardiologist
•Left ventricular outflow tract gradient \> 50mmHg
•Aortic valve disease
•Left bundle branch block
•(History of) Obstructive coronary artery disease
•Chronic atrial fibrillation
•Hormone replacement therapy
•Second or third-degree AV-block, sick-sinussyndrome, prolonged QT-interval
•Asthma and other obstructive pulmonary diseases
•Previous adverse reaction to adenosine or dotarem

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